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    HSF2 heat shock transcription factor 2 [ Homo sapiens (human) ]

    Gene ID: 3298, updated on 12-Aug-2018

    Summary

    Official Symbol
    HSF2provided by HGNC
    Official Full Name
    heat shock transcription factor 2provided by HGNC
    Primary source
    HGNC:HGNC:5225
    See related
    Ensembl:ENSG00000025156 MIM:140581; Vega:OTTHUMG00000016216
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSF 2; HSTF 2
    Summary
    The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
    Expression
    Broad expression in testis (RPKM 22.1), bone marrow (RPKM 8.8) and 23 other tissues See more
    Orthologs

    Genomic context

    See HSF2 in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (122399551..122433119)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (122720696..122754264)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377979 Neighboring gene uncharacterized LOC105377978 Neighboring gene RNA, U1 small nuclear 18, pseudogene Neighboring gene serine incorporator 1 Neighboring gene cAMP-dependent protein kinase inhibitor beta

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC75048, MGC117376, MGC156196

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISM
    Inferred from Sequence Model
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    PubMed 
    RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to heat IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter in response to heat stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    heat shock factor protein 2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029607.1 RefSeqGene

      Range
      5001..38569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135564.1NP_001129036.1  heat shock factor protein 2 isoform b

      See identical proteins and their annotated locations for NP_001129036.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (b) missing an internal protein segment compared to isoform a. Updated summary and variant texts. [BR]
      Source sequence(s)
      AK225593, BC112323, BC121050, DA741774, Z99129
      Consensus CDS
      CCDS47470.1
      UniProtKB/Swiss-Prot
      Q03933
      Related
      ENSP00000400380.1, ENST00000452194.5
      Conserved Domains (2) summary
      smart00415
      Location:6110
      HSF; heat shock factor
      pfam06546
      Location:230494
      Vert_HS_TF; Vertebrate heat shock transcription factor
    2. NM_001243094.1NP_001230023.1  heat shock factor protein 2 isoform c

      See identical proteins and their annotated locations for NP_001230023.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a different 3' terminal exon compared to variant 1. This results in a frame-shift and a shorter isoform (c) with a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC064622, DA741774
      UniProtKB/TrEMBL
      Q9BS48
      Conserved Domains (1) summary
      smart00415
      Location:6110
      HSF; heat shock factor
    3. NM_004506.3NP_004497.1  heat shock factor protein 2 isoform a

      See identical proteins and their annotated locations for NP_004497.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC112323, DA741774, Z99129
      Consensus CDS
      CCDS5124.1
      UniProtKB/Swiss-Prot
      Q03933
      Related
      ENSP00000357440.4, OTTHUMP00000017845, ENST00000368455.8, OTTHUMT00000043520
      Conserved Domains (2) summary
      smart00415
      Location:6110
      HSF; heat shock factor
      pfam06546
      Location:230512
      Vert_HS_TF; Vertebrate heat shock transcription factor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      122399551..122433119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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